ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.2118C>T (p.Gly706=) (rs191755360)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493797 SCV000581588 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000230518 SCV000291631 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change affects codon 706 of the DICER1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DICER1 protein. This variant is present in population databases (rs191755360, ExAC 0.006%). This variant has not been reported in the literature in individuals with DICER1-related disease. ClinVar contains an entry for this variant (Variation ID: 242058). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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